Variant #0000447076 (NC_000015.9:g.42680002del, CAPN3(NM_000070.2):c.550del)

Individual ID 00213642
Chromosome 15
Allele Parent #1
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.42680002del
DNA change (hg38) g.42387804del
Published as 550delA
ISCN -
DB-ID CAPN3_000010 See all 325 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Lab Müller-Reible
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CAPN3 NM_000070.2 +/. 4 c.550del r.(?) p.(Thr184Argfs*36†)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000214711 DNA SEQ - - CAPN3 2 Lab Müller-Reible